Article
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenetic and genome research - 1 Jan 2015
Di Gregorio Eleonora, Gai Giorgia, Botta Giovanni, Calcia Alessandro, Pappi Patrizia, Talarico Flavia, Savin Elisa, Ribotta Marisa, Zonta Andrea, Mancini Cecilia, Giorgio Elisa, Cavalieri Simona, Restagno Gabriella, Ferrero Giovanni B, Viora Elsa, Pasini Barbara, Grosso Enrico, Brusco Alfredo, Brussino Alessandro
Abstract excerpt
Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39% for aCGH. We collected 33 fetuses, 9 with a single MCM and 24 with MCMs involving 2-4 organ systems. aCGH revealed copy number variants in 14 out of 33 cases (42%)....
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